Cases reported "Retinal Diseases"

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1/49. Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial dna point mutation.

    PURPOSE: To report ocular findings in the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (melas syndrome) in a family with the A to G 3243 mitochondrial (mt) dna point mutation. methods: case reports. Ocular findings are described from four family members with the MELAS associated A to G 3243 mt dna point mutation. RESULTS: Findings included ophthalmoplegia, neurosensory deafness, reduction of photopic and scotopic electroretinogram b-wave amplitudes, and myopathy, as well as macular retinal pigment epithelial atrophy. No family members had nyctalopia, attenuation of retinal blood vessels, or retinal bone spicule pigmentation. CONCLUSION: The finding of slowly progressive macular retinal pigment epithelial atrophy expands the reported phenotypic diversity of patients with A3243G mt dna mutations.
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2/49. central serous chorioretinopathy after bone marrow transplantation.

    PURPOSE: To describe central serous chorioretinopathy after bone marrow transplantation. methods: The medical records of the patient were reviewed retrospectively. RESULTS: A 46-year-old Filipino man developed multifocal central serous chorioretinopathy affecting his left eye 4 months after bone marrow transplantation for acute myelogenous leukemia. Other co-existing medical problems at the time of presentation included systemic hypertension and graft-versus-host-disease (GVHD), for which the patient was using both systemic corticosteroids and cyclosporine. CONCLUSION: central serous chorioretinopathy is a rare cause of vision loss in patients after bone marrow transplantation. Previous descriptions of bone marrow transplantation-associated central serous chorioretinopathy in patients with thrombotic microangiopathy, as well as the occurrence of both systemic hypertension and the use of systemic corticosteroids and cyclosporine in our patient with bone marrow transplantation-associated central serous chorioretinopathy, support theories of choroidal vascular compromise in the pathogenesis of central serous chorioretinopathy.
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3/49. True, true and related?

    Several chorioretinal lesions have been observed that are associated with bone marrow transplantation (BMT), such as cotton-wool spots, macular stars, ischemic changes due to microangiopathy, "BMT retinopathy" and choroidal infiltration. Central serous retinopathy (CSR) has rarely been described in the BMT setting. We present a patient who underwent allogeneic BMT and subsequently developed severe chronic graft versus host disease (CGvHD) complicated with CSR.
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4/49. Atypical retinal microvasculopathy after bone marrow transplantation.

    OBJECTIVE: Typical early ischaemic retinal microvascular changes with cotton wool spots after allogeneic bone marrow transplantation (BMT) are well recognised. In the study an atypical non-ischaemic late retinopathy is described. methods: Sequential cases of late retinal microvasculopathy following allogeneic BMT were reviewed. Demographic features and clinical and angiographic data were collected. RESULTS: Of 399 patients undergoing allogeneic BMT between 1992 and 1999, eight eyes of four patients developed atypical retinopathy. All patients were male and the age range was 27-50 (mean 37.5) years.The indications for BMT were acute lymphoblastic leukaemia (two patients), chronic myeloid leukaemia (one patient) and chronic lymphocytic leukaemia (one patient).Two patients had conditioning regimens including irradiation. All had cyclosporine and methotrexate as graft-versus-host disease prophylaxis. All but one had cyclophosphamide and busulphan as conditioning treatment. One had interferon. No patients had sustained hypertension or diabetes mellitus. Atypical retinopathy was identified 13-62 (mean 50) months after BMT and clinical features consisted of microaneurysms (MA; 4/4), hard exudates (1/4) and macular oedema (1/4). No patient had cotton wool spots.The median acuity was 6/5. Angiographic features were MA (4/4), late leak (2/4) and peripheral (1/4) or central (1/4) ischaemia. One patient underwent focal photocoagulation for macular oedema. CONCLUSION: Retinal microvascular incompetence (without cotton wool spots) with good vision may occur in a small number of patients as a late complication of allogeneic BMT
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5/49. Ocular manifestations of leukemia: leukemic infiltration versus infectious process.

    OBJECTIVE: To determine whether specific guidelines can be developed to distinguish whether retinal infiltration in leukemia patients represents infection or neoplasia. DESIGN: Retrospective noncomparative interventional case series. PARTICIPANTS: Six patients recently seen at University of california San Francisco with retinal infiltrates in a setting of leukemia, for which adequate written and photographic information of disease course was available. INTERVENTION: observation consisted of retrospective review of clinic charts, hospital medical records, and fundus photographs. MAIN OUTCOME MEASURES: Determination of whether retinal infiltrates represented neoplasia or infection was made by review of medical records. RESULTS: In this series, neoplastic retinal infiltrates were found in patients who had newly diagnosed leukemia and those who were in blast crisis. In contrast, the two patients who were in complete remission, but had undergone bone marrow transplantation, had retinal infiltrates attributable to infection. CONCLUSIONS: Every patient with retinal infiltrates in the setting of newly or previously diagnosed leukemia requires a systemic and central nervous system workup before the initiation of ophthalmologic treatment. The systemic status of the patient is highly informative in determining whether infection or neoplasia is responsible for the infiltration.
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6/49. association of the congenital bone marrow failure syndromes with retinopathy, intracerebral calcification and progressive neurological impairment.

    We present a child with Fanconi anaemia and congenital hypopituitarism, who developed intracerebral calcifications, progressive spasticity and retinopathy. The chromosome fragility with mitomycin C was increased in both the patient and his sibling, confirming a diagnosis of Fanconi anaemia. Aplastic anaemia in association with intracerebral calcifications has been described in patients with dyskeratosis congenita and Revesz syndrome, but not so far in confirmed cases of Fanconi anaemia. This case further illustrates the greater overlap of associated features in congenital bone marrow failure syndromes. It also indicates that Fanconi anaemia should be actively excluded where such associated features are found.
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7/49. bone marrow transplantation retinopathy.

    BACKGROUND: Bone marrow transplantion (BMT) is the treatment of choice for both malignant and nonmalignant disorders of the bone marrow. BMT retinopathy occurs after a latent period of 6 months and usually recovers after a few weeks. methods: We present a case of BMT retinopathy (BMT) in a patient with a high-degree of non-Hodgkin lymphoma. We analysed the funduscopic and angiographic findings, and the evolution of the case. RESULTS: AND CONCLUSIONS: After a period of two and a half years we observed the spontaneous complete resolution of the fundus lesions and the recovery of visual acuity All of this confirm the theory that BMT retinopathy does not progress beyond the ischemic microvascular stage.
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ranking = 1
keywords = bone
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8/49. Graft-vs-host-disease-associated conjunctival chemosis and central serous chorioretinopathy after bone marrow transplant.

    PURPOSE: To describe bilateral conjunctival chemosis and central serous chorioretinopathy in a patient with graft-vs-host disease after bone marrow transplant. DESIGN: Interventional case report. methods: A 45-year-old Chinese woman developed blurring of vision 16 days after bone marrow transplant for multiple myeloma. She had graft-vs-host disease 11 days after bone marrow transplantation. On examination, vision was 0.6 in the right eye and 0.3 in the left eye. Bilateral conjunctival chemosis and multiple central serous chorioretinopathy were present. RESULTS: Treatment of graft-vs-host disease with high-dose systemic corticosteroid and cyclosporin led to the resolution of the conjunctival chemosis and central serous chorioretinopathy 3 months later. visual acuity improved to 0.8 in both eyes. CONCLUSION: Choroidal infiltrate in graft-vs-host disease may contribute to choroidal hyperpermeability, which leads to the development of central serous chorioretinopathy in postbone marrow transplant patients.
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ranking = 8
keywords = bone
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9/49. growth failure with pericardial constriction. The syndrome of mulibrey nanism.

    The features of the syndrome of mulibrey nanism, an autosomal recessive disorder of unknown pathogenesis, include severe growth failure, yellow pigmentation of the retina, evidence of pericardial constriction, J-shaped sella turcica, and fibrous dysplasia of bones. To date, 24 individuals from finland and a boy from egypt have been reported with the syndrome. The patient reviewed in this article is the first known affected child from the united states. It is important that physicians look for this disorder in children with severe growth failure and hepatomegaly because of the potential seriousness of undetected pericardial constriction.
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10/49. Transmission electron microscopic study of a subretinal choroidal neovascular membrane due to age-related macular degeneration.

    From a patient with age-related macular degeneration we studied ultrastructurally a disciform scar that was removed from an eye with a vitreous hemorrhage. In cross section, the scar was divided by a retinal pigment epithelial (RPE) cell layer. The choroidal side consisted of fibrovascular tissue with active neovascular buds and inflammatory cells, including macrophages attached to the RPE basement membrane. Apart from the RPE, no components of Bruch's membrane could be identified. The retinal side contained organizing hemorrhage and a collagenous matrix with fibroblastlike cells probably of RPE and choroidal origin. The anatomy and the clinical findings at surgery suggest that such scars lie on (rather than within) the inner collagenous layer of Bruch's membrane and contain two components divided by the original RPE layer. The choroidal side is fibrovascular, including active neovascularization, and the retinal side is fibrous and formed by metaplastic RPE cells and choroidal fibrovascular ingrowth.
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ranking = 240.48349043765
keywords = macrophage
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